Variant Details

Variant: esv2757910

Internal ID

9979987

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:191149222..191561318	hg38	UCSC Ensembl
Inner	chr3:190867011..191279107	hg19	UCSC Ensembl
Inner	chr3:192349705..192761801	hg18	UCSC Ensembl
Inner	chr3:192349713..192761809	hg17	UCSC Ensembl

Cytoband

3q28

Allele length

Assembly	Allele length
hg38	412097
hg19	412097
hg18	412097
hg17	412097

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759209

Supporting Variants

essv17141, essv882, essv3395, essv17563, essv15147, essv7531, essv1824, essv409, essv21196, essv18088, essv5484, essv8134, essv9360, essv20329, essv20055, essv8839, essv11632, essv12234, essv10004, essv18960, essv24847, essv21372, essv20432, essv3866, essv18728, essv9699, essv15559, essv17032, essv5291, essv5341, essv23903, essv2998, essv6306, essv1209, essv18452

Samples

NA11830, NA18508, NA12814, NA12236, NA18545, NA18563, NA19171, NA07048, NA12762, NA12005, NA19137, NA11831, NA18951, NA18976, NA18981, NA19000, NA10830, NA19154, NA18853, NA12145, NA19099, NA19101, NA18945, NA18632, NA19206, NA18913, NA19144, NA12874, NA12740, NA18971, NA18994, NA18609, NA19129, NA18624, NA07000

Known Genes

CCDC50, OSTN, PYDC2, UTS2B

Method

BAC aCGH

Analysis

Array images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).

Platform

Agilent

Comments

Reference

Redon_et_al_2006

Pubmed ID

17122850

Accession Number(s)

esv2757910

Frequency

Sample Size	270
Observed Gain	30
Observed Loss	5
Observed Complex	0
Frequency	n/a